Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, Slovakia.
National Institute of Rheumatic Diseases, Nábrežie Ivana Krasku 4, 921 12 Piestany, Slovakia.
Medicina (Kaunas). 2024 May 16;60(5):815. doi: 10.3390/medicina60050815.
In recent years, research has intensified in exploring the genetic basis of psoriasis (PsO) and psoriatic arthritis (PsA). Genome-wide association studies (GWASs), including tools like ImmunoChip, have significantly deepened our understanding of disease mechanisms by pinpointing risk-associated genetic loci. These efforts have elucidated biological pathways involved in PsO pathogenesis, particularly those related to the innate immune system, antigen presentation, and adaptive immune responses. Specific genetic loci, such as TRAF3IP2, REL, and FBXL19, have been identified as having a significant impact on disease development. Interestingly, different genetic variants at the same locus can predispose individuals to either PsO or PsA (e.g., IL23R and deletion of LCE3B and LCE3C), with some variants being uniquely linked to PsA (like HLA B27 on chromosome 6). This article aims to summarize known and new data on the genetics of PsO and PsA, their associated genes, and the involvement of the HLA system and cytokines.
近年来，研究人员深入研究了银屑病（PsO）和银屑病关节炎（PsA）的遗传基础。全基因组关联研究（GWAS），包括 ImmunoChip 等工具，通过确定与风险相关的遗传位点，极大地加深了我们对疾病机制的理解。这些努力阐明了参与 PsO 发病机制的生物学途径，特别是与先天免疫系统、抗原呈递和适应性免疫反应相关的途径。已经确定了一些特定的遗传位点，如 TRAF3IP2、REL 和 FBXL19，它们对疾病的发展有重大影响。有趣的是，同一基因座的不同遗传变异可能使个体易患 PsO 或 PsA（例如，IL23R 和 LCE3B 和 LCE3C 的缺失），一些变异与 PsA 有独特的关联（如 6 号染色体上的 HLA B27）。本文旨在总结 PsO 和 PsA 的遗传学、相关基因以及 HLA 系统和细胞因子的已知和新数据。
